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| Familial hypercholesterolaemia v0.46 | PCSK9 | Bryony Thompson Marked gene: PCSK9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.46 | PCSK9 | Bryony Thompson Gene: pcsk9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.46 | PCSK9 | Bryony Thompson Phenotypes for gene: PCSK9 were changed from to hypercholesterolemia, autosomal dominant, 3 MONDO:0011369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.45 | PCSK9 | Bryony Thompson Publications for gene: PCSK9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.44 | PCSK9 | Bryony Thompson Mode of pathogenicity for gene: PCSK9 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.43 | PCSK9 | Bryony Thompson Mode of inheritance for gene: PCSK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.27 | PCSK9 |
Sangavi Sivagnanasundram changed review comment from: Classified as Definitive by ClinGen GCEP on 14/11/2018 - https://search.clinicalgenome.org/CCID:005746 Mechanism of disease is GoF. Heterozygous LoF variants in this gene are associated with low levels of LDL cholesterol - PMID: 15654334; to: Classified as Definitive by ClinGen General Gene Curation GCEP on 14/11/2018 - https://search.clinicalgenome.org/CCID:005746 Mechanism of disease is GoF. Heterozygous LoF variants in this gene are associated with low levels of LDL cholesterol - PMID: 15654334 |
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| Familial hypercholesterolaemia v0.27 | PCSK9 | Sangavi Sivagnanasundram reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24404629, 16577715, 15654334; Phenotypes: hypercholesterolemia, autosomal dominant, 3 MONDO:0011369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.0 | PCSK9 |
Zornitza Stark gene: PCSK9 was added gene: PCSK9 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PCSK9 was set to Unknown |
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